chrom
large_stringclasses
5 values
pos
int64
286k
308M
ref
large_stringclasses
4 values
alt
large_stringclasses
4 values
AC
int64
4
2.3k
AN
int64
2.45k
2.45k
AF
float64
0
0.94
MAF
float64
0
0.5
consequence
large_stringclasses
11 values
original_consequence
large_stringclasses
18 values
1
6,192,348
C
T
16
2,448
0.006536
0.006536
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
6,192,432
T
C
6
2,448
0.002451
0.002451
grouped_splice_region
splice_polypyrimidine_tract_variant
1
6,192,595
C
T
348
2,448
0.142157
0.142157
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
6,192,722
T
C
1,772
2,448
0.723856
0.276144
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
6,192,840
A
G
1,062
2,448
0.433824
0.433824
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
6,224,374
C
T
64
2,448
0.026144
0.026144
5_prime_UTR_variant
5_prime_UTR_variant
1
6,225,155
A
G
4
2,448
0.001634
0.001634
synonymous_variant
synonymous_variant
1
6,226,799
A
G
20
2,448
0.00817
0.00817
intron_variant
intron_variant
1
6,228,332
G
T
126
2,448
0.051471
0.051471
3_prime_UTR_variant
3_prime_UTR_variant
1
6,253,379
T
A
4
2,448
0.001634
0.001634
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
6,265,768
G
C
240
2,448
0.098039
0.098039
grouped_splice_region
splice_polypyrimidine_tract_variant
1
6,365,650
T
A
124
2,448
0.050654
0.050654
synonymous_variant
synonymous_variant
1
6,372,642
C
T
1,308
2,448
0.534314
0.465686
missense_variant
missense_variant
1
6,372,817
C
A
258
2,448
0.105392
0.105392
grouped_start_stop
stop_gained
1
6,477,064
T
C
672
2,448
0.27451
0.27451
downstream_gene_variant
downstream_gene_variant
1
6,477,236
A
G
342
2,448
0.139706
0.139706
downstream_gene_variant
downstream_gene_variant
1
6,479,671
C
T
18
2,448
0.007353
0.007353
missense_variant
missense_variant
1
6,483,230
G
C
214
2,448
0.087418
0.087418
upstream_gene_variant
upstream_gene_variant
1
6,516,096
T
C
2,106
2,448
0.860294
0.139706
5_prime_UTR_variant
5_prime_UTR_variant
1
6,780,833
T
C
210
2,448
0.085784
0.085784
grouped_splice_region
splice_polypyrimidine_tract_variant
1
6,785,138
C
G
1,572
2,448
0.642157
0.357843
missense_variant
missense_variant
1
6,785,950
A
T
1,558
2,448
0.636438
0.363562
intron_variant
intron_variant
1
6,864,112
A
G
270
2,448
0.110294
0.110294
5_prime_UTR_variant
5_prime_UTR_variant
1
6,864,556
C
A
4
2,448
0.001634
0.001634
5_prime_UTR_variant
5_prime_UTR_variant
1
6,871,096
G
A
208
2,448
0.084967
0.084967
grouped_splice_region
splice_donor_5th_base_variant
1
7,012,480
A
T
1,254
2,448
0.512255
0.487745
intergenic_variant
intergenic_variant
1
7,017,694
G
C
28
2,448
0.011438
0.011438
missense_variant
missense_variant
1
7,021,481
G
T
650
2,448
0.265523
0.265523
downstream_gene_variant
downstream_gene_variant
1
7,239,307
G
T
234
2,448
0.095588
0.095588
3_prime_UTR_variant
3_prime_UTR_variant
1
7,242,306
C
T
220
2,448
0.089869
0.089869
grouped_start_stop
stop_gained
1
7,254,005
C
G
6
2,448
0.002451
0.002451
intergenic_variant
intergenic_variant
1
7,256,965
A
T
596
2,448
0.243464
0.243464
intergenic_variant
intergenic_variant
1
7,287,975
G
A
2,012
2,448
0.821895
0.178105
synonymous_variant
synonymous_variant
1
7,288,517
G
C
6
2,448
0.002451
0.002451
3_prime_UTR_variant
3_prime_UTR_variant
1
7,300,377
G
T
938
2,448
0.38317
0.38317
grouped_start_stop
stop_gained
1
7,300,645
A
G
544
2,448
0.222222
0.222222
5_prime_UTR_variant
5_prime_UTR_variant
1
7,301,229
G
T
4
2,448
0.001634
0.001634
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
7,301,408
A
G
736
2,448
0.300654
0.300654
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
7,337,102
A
G
204
2,448
0.083333
0.083333
upstream_gene_variant
upstream_gene_variant
1
7,342,407
C
T
12
2,448
0.004902
0.004902
downstream_gene_variant
downstream_gene_variant
1
7,348,820
C
A
10
2,448
0.004085
0.004085
3_prime_UTR_variant
3_prime_UTR_variant
1
7,401,188
G
A
14
2,448
0.005719
0.005719
synonymous_variant
synonymous_variant
1
7,433,617
C
A
184
2,448
0.075163
0.075163
grouped_start_stop
stop_gained
1
7,497,059
C
T
54
2,448
0.022059
0.022059
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
7,506,460
T
G
616
2,448
0.251634
0.251634
grouped_start_stop
stop_lost
1
7,507,831
C
T
4
2,448
0.001634
0.001634
synonymous_variant
synonymous_variant
1
7,508,555
C
A
114
2,448
0.046569
0.046569
intron_variant
intron_variant
1
7,511,697
G
T
12
2,448
0.004902
0.004902
5_prime_UTR_variant
5_prime_UTR_variant
1
7,780,479
C
T
924
2,448
0.377451
0.377451
missense_variant
missense_variant
1
7,814,151
G
A
32
2,448
0.013072
0.013072
3_prime_UTR_variant
3_prime_UTR_variant
1
7,989,002
C
A
16
2,448
0.006536
0.006536
synonymous_variant
synonymous_variant
1
8,096,365
G
A
4
2,448
0.001634
0.001634
grouped_splice_region
splice_region_variant
1
8,223,092
C
T
12
2,448
0.004902
0.004902
missense_variant
missense_variant
1
8,253,086
C
T
22
2,448
0.008987
0.008987
intergenic_variant
intergenic_variant
1
8,311,519
C
G
366
2,448
0.14951
0.14951
missense_variant
missense_variant
1
8,423,367
T
C
1,934
2,448
0.790033
0.209967
intron_variant
intron_variant
1
8,424,331
C
T
26
2,448
0.010621
0.010621
grouped_splice_region
splice_polypyrimidine_tract_variant
1
8,488,789
C
T
398
2,448
0.162582
0.162582
grouped_splice_region
splice_region_variant
1
8,510,838
G
A
446
2,448
0.18219
0.18219
grouped_splice_region
splice_region_variant
1
8,531,597
T
C
126
2,448
0.051471
0.051471
downstream_gene_variant
downstream_gene_variant
1
8,606,115
C
A
20
2,448
0.00817
0.00817
5_prime_UTR_variant
5_prime_UTR_variant
1
8,607,341
G
A
112
2,448
0.045752
0.045752
5_prime_UTR_variant
5_prime_UTR_variant
1
8,607,832
T
G
1,082
2,448
0.441993
0.441993
upstream_gene_variant
upstream_gene_variant
1
8,609,340
A
C
10
2,448
0.004085
0.004085
intergenic_variant
intergenic_variant
1
8,612,403
G
T
80
2,448
0.03268
0.03268
missense_variant
missense_variant
1
8,638,084
C
A
1,274
2,448
0.520425
0.479575
grouped_start_stop
stop_gained
1
8,725,860
G
A
942
2,448
0.384804
0.384804
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
8,726,022
G
A
10
2,448
0.004085
0.004085
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
8,726,049
C
T
10
2,448
0.004085
0.004085
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
8,726,062
G
A
10
2,448
0.004085
0.004085
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
8,726,138
T
C
1,046
2,448
0.427288
0.427288
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
8,727,672
C
T
676
2,448
0.276144
0.276144
grouped_start_stop
stop_gained
1
8,729,704
G
T
456
2,448
0.186275
0.186275
grouped_start_stop
start_lost
1
8,917,546
G
A
266
2,448
0.10866
0.10866
grouped_start_stop
start_lost
1
8,949,770
C
T
116
2,448
0.047386
0.047386
upstream_gene_variant
upstream_gene_variant
1
8,950,775
C
T
144
2,448
0.058824
0.058824
downstream_gene_variant
downstream_gene_variant
1
9,047,512
A
C
1,284
2,448
0.52451
0.47549
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
9,047,547
C
T
14
2,448
0.005719
0.005719
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
9,047,704
C
A
6
2,448
0.002451
0.002451
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
9,047,813
C
A
286
2,448
0.11683
0.11683
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
9,048,140
A
T
40
2,448
0.01634
0.01634
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
1
9,056,717
T
C
4
2,448
0.001634
0.001634
grouped_start_stop
start_lost
1
9,279,832
C
T
1,634
2,448
0.667484
0.332516
synonymous_variant
synonymous_variant
1
9,361,206
C
T
4
2,448
0.001634
0.001634
intergenic_variant
intergenic_variant
1
9,427,048
A
G
1,160
2,448
0.473856
0.473856
synonymous_variant
synonymous_variant
1
9,427,654
G
A
364
2,448
0.148693
0.148693
synonymous_variant
synonymous_variant
1
9,428,128
A
G
46
2,448
0.018791
0.018791
3_prime_UTR_variant
3_prime_UTR_variant
1
9,441,914
T
A
20
2,448
0.00817
0.00817
intergenic_variant
intergenic_variant
1
9,516,966
T
C
1,640
2,448
0.669935
0.330065
grouped_splice_region
splice_polypyrimidine_tract_variant
1
9,529,763
A
G
1,566
2,448
0.639706
0.360294
intron_variant
intron_variant
1
9,531,331
G
A
340
2,448
0.138889
0.138889
5_prime_UTR_variant
5_prime_UTR_variant
1
9,575,213
G
T
60
2,448
0.02451
0.02451
missense_variant
missense_variant
1
9,963,624
G
A
268
2,448
0.109477
0.109477
downstream_gene_variant
downstream_gene_variant
1
10,044,016
C
T
86
2,448
0.035131
0.035131
grouped_start_stop
stop_gained
1
10,045,185
G
A
1,312
2,448
0.535948
0.464052
3_prime_UTR_variant
3_prime_UTR_variant
1
10,045,188
A
G
4
2,448
0.001634
0.001634
3_prime_UTR_variant
3_prime_UTR_variant
1
10,193,615
G
A
442
2,448
0.180556
0.180556
5_prime_UTR_variant
5_prime_UTR_variant
1
10,196,328
C
A
718
2,448
0.293301
0.293301
upstream_gene_variant
upstream_gene_variant
1
10,673,677
A
G
582
2,448
0.237745
0.237745
grouped_splice_region
splice_donor_variant
1
10,679,505
C
G
1,132
2,448
0.462418
0.462418
missense_variant
missense_variant